Literature DB >> 8421472

High frequency of the R117H cystic fibrosis mutation in patients with congenital absence of the vas deferens.

R Gervais, V Dumur, J M Rigot, J J Lafitte, P Roussel, M Claustres, J Demaille.   

Abstract

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Year:  1993        PMID： 8421472     DOI： 10.1056/NEJM199302113280619

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  15 in total

1.  Long-range (17.7 kb) allele-specific polymerase chain reaction method for direct haplotyping of R117H and IVS-8 mutations of the cystic fibrosis transmembrane regulator gene.

Authors:  Genevieve Pont-Kingdon; Mohamed Jama; Christine Miller; Alison Millson; Elaine Lyon
Journal:  J Mol Diagn       Date:  2004-08       Impact factor: 5.568

2.  Restoration of R117H CFTR folding and function in human airway cells through combination treatment with VX-809 and VX-770.

Authors:  Martina Gentzsch; Hong Y Ren; Scott A Houck; Nancy L Quinney; Deborah M Cholon; Pattarawut Sopha; Imron G Chaudhry; Jhuma Das; Nikolay V Dokholyan; Scott H Randell; Douglas M Cyr
Journal:  Am J Physiol Lung Cell Mol Physiol       Date:  2016-07-08       Impact factor: 5.464

3.  CFTR gene variant for patients with congenital absence of vas deferens.

Authors:  J Zielenski; P Patrizio; M Corey; B Handelin; D Markiewicz; R Asch; L C Tsui
Journal:  Am J Hum Genet       Date:  1995-10       Impact factor: 11.025

4.  Cystic fibrosis heterozygote screening in 5,161 pregnant women.

Authors:  D R Witt; C Schaefer; P Hallam; S Wi; B Blumberg; A Fishbach; J Holtzman; S Kornfeld; R Lee; L Nemzer; R Palmer
Journal:  Am J Hum Genet       Date:  1996-04       Impact factor: 11.025

Review 5.  The cystic fibrosis gene: a molecular genetic perspective.

Authors:  Lap-Chee Tsui; Ruslan Dorfman
Journal:  Cold Spring Harb Perspect Med       Date:  2013-02-01       Impact factor: 6.915

6.  Congenital bilateral absence of the vas deferens (CBAVD) and cystic fibrosis transmembrane regulator (CFTR): correlation between genotype and phenotype.

Authors:  V Dumur; R Gervais; J M Rigot; E Delomel-Vinner; B Decaestecker; J J Lafitte; P Roussel
Journal:  Hum Genet       Date:  1996-01       Impact factor: 4.132

7.  Analysis of the whole CFTR coding regions and splice junctions in azoospermic men with congenital bilateral aplasia of epididymis or vas deferens.

Authors:  J F Culard; M Desgeorges; P Costa; M Laussel; G Razakatzara; H Navratil; J Demaille; M Claustres
Journal:  Hum Genet       Date:  1994-04       Impact factor: 4.132

Review 8.  Heterogeneity in the severity of cystic fibrosis and the role of CFTR gene mutations.

Authors:  M Dean; G Santis
Journal:  Hum Genet       Date:  1994-04       Impact factor: 4.132

9.  Extensive analysis of 40 infertile patients with congenital absence of the vas deferens: in 50% of cases only one CFTR allele could be detected.

Authors:  T Casals; L Bassas; J Ruiz-Romero; M Chillón; J Giménez; M D Ramos; G Tapia; H Narváez; V Nunes; X Estivill
Journal:  Hum Genet       Date:  1995-02       Impact factor: 4.132

10.  Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients.

Authors:  B Mercier; C Verlingue; W Lissens; S J Silber; G Novelli; M Bonduelle; M P Audrézet; C Férec
Journal:  Am J Hum Genet       Date:  1995-01       Impact factor: 11.025
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